| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NBAS_chr2_15161916_15566334 | 15237560 | ATATTTAT others(13): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG02451.hp1 others(2): Show |
a0002a0003a0024others(1): Show | a0002c0002a0003c0010a0024c0033others(1): Show | a0002c0002t0001a0003c0010t0001a0024c0033t0001others(1): Show | a0002c0002t0001g0151a0003c0010t0001g0048a0003c0010t0001g0114others(2): Show | 5 | 224 | 0.0223 | -20 | c.594 others(37): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 45/51 | chr2 | TogoVar | ||||||
| NBAS_chr2_15161916_15566334 | 15533679 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02083.hp1 HG03017.hp2 others(2): Show |
a0004a0008a0021others(2): Show | a0004c0017a0008c0019a0021c0020others(2): Show | a0004c0017t0001a0008c0019t0001a0021c0020t0001others(2): Show | a0004c0017t0001g0001a0008c0019t0001g0004a0021c0020t0001g0005others(2): Show | 5 | 224 | 0.0223 | -20 | c.746 others(35): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 9/51 | chr2 | TogoVar | ||||||
| NBEAL1_chr2_203009875_203230194 | 203039216 | TTTCCCTT others(13): Show |
T | intron_variant | MODIFIER | HG02135.hp1 HG02145.hp2 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0040a0002c0002t0003 | a0001c0001t0040g0012a0002c0002t0003g0046a0002c0002t0003g0048others(2): Show | 5 | 292 | 0.0171 | -20 | c.52- others(35): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 2/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NBEAL1_chr2_203009875_203230194 | 203190159 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(122): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0004a0001c0007others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0002g0079a0001c0001t0002g0087a0001c0001t0002g0089others(122): Show | 125 | 292 | 0.4281 | -20 | c.682 others(36): Show |
NBEAL1 | ENSG00000144426.19 | transcript | ENST00000683969.1 | protein_coding | 45/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35064167 | AGGATTTA others(13): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 122 | 0.0082 | -20 | c.123 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 8/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35124629 | CATACACA others(13): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG03017.hp2 HG03225.hp1 others(4): Show |
a0002 | a0002c0004a0002c0020a0002c0021 | a0002c0004t0001a0002c0004t0002a0002c0004t0003others(2): Show | a0002c0004t0001g0020a0002c0004t0001g0023a0002c0004t0001g0024others(4): Show | 7 | 122 | 0.0574 | -20 | c.233 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 17/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35124761 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 |
a0001a0003 | a0001c0003a0003c0026 | a0001c0003t0001a0003c0026t0001 | a0001c0003t0001g0005a0003c0026t0001g0119 | 2 | 122 | 0.0164 | -20 | c.233 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 17/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35127605 | CAAATATA others(13): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 122 | 0.0082 | -20 | c.233 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 17/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35236406 | TTTTTGTT others(13): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0037a0001c0001t0001g0049others(32): Show | 35 | 122 | 0.2869 | -20 | c.577 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 34/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35308438 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02630.hp1 HG02809.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0006a0001c0001t0015a0001c0002t0013others(1): Show | a0001c0001t0006g0033a0001c0001t0006g0040a0001c0001t0006g0041others(4): Show | 7 | 122 | 0.0574 | -20 | c.583 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 35/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35445782 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0073a0001c0001t0001g0076a0001c0001t0001g0079others(22): Show | 25 | 122 | 0.2049 | -20 | c.630 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 39/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBEA_chr13_34937270_35677736 | 35563132 | GAGATAGA others(13): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0085 | 1 | 122 | 0.0082 | -20 | c.692 others(39): Show |
NBEA | ENSG00000172915.20 | transcript | ENST00000379939.7 | protein_coding | 44/58 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NBPF10_chr1_146059711_146149804 | 146076238 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG01934.hp2 HG01975.hp1 HG01981.hp1 others(5): Show |
a0004a0018a0034others(3): Show | a0004c0004a0018c0049a0034c0228others(3): Show | a0004c0004t0003a0018c0049t0001a0034c0228t0003others(3): Show | a0004c0004t0003g0168a0004c0004t0003g0195a0004c0004t0003g0199others(5): Show | 8 | 283 | 0.0283 | -20 | c.962 others(37): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146076284 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp1 |
a0133a0134 | a0133c0140a0134c0143 | a0133c0140t0005a0134c0143t0017 | a0133c0140t0005g0155a0134c0143t0017g0149 | 2 | 283 | 0.0071 | -20 | c.962 others(37): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146076286 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02165.hp2 HG03491.hp2 others(2): Show |
a0012a0100a0117 | a0012c0008a0100c0112a0117c0106 | a0012c0008t0002a0100c0112t0002a0117c0106t0002 | a0012c0008t0002g0003a0012c0008t0002g0105a0100c0112t0002g0109others(1): Show | 5 | 283 | 0.0177 | -20 | c.962 others(37): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 77/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146080974 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG00738.hp1 others(30): Show |
a0002a0003a0005others(18): Show | a0002c0002a0003c0003a0005c0072others(22): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(24): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(29): Show | 33 | 283 | 0.1166 | -20 | c.889 others(37): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 71/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146081012 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 NA18940.hp1 |
a0043a0059a0063 | a0043c0034a0059c0047a0063c0037 | a0043c0034t0001a0059c0047t0001a0063c0037t0001 | a0043c0034t0001g0086a0059c0047t0001g0038a0063c0037t0001g0036 | 3 | 283 | 0.0106 | -20 | c.889 others(37): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 71/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146095185 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0098 | a0098c0111 | a0098c0111t0002 | a0098c0111t0002g0122 | 1 | 283 | 0.0035 | -20 | c.669 others(37): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 53/89 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146118771 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03130.hp2 NA19240.hp1 |
a0031a0204a0205 | a0031c0186a0204c0226a0205c0227 | a0031c0186t0003a0204c0226t0007a0205c0227t0007 | a0031c0186t0003g0205a0204c0226t0007g0217a0205c0227t0007g0218 | 3 | 283 | 0.0106 | -20 | c.303 others(37): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 23/89 | chr1 | TogoVar | ||||||
| NBPF11_chr1_148097151_148157281 | 148115164 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp2 HG01975.hp2 others(22): Show |
a0000a0008 | a0000c0003a0000c0009a0000c0014others(2): Show | a0000c0003t0003a0000c0009t0008a0000c0014t0003others(2): Show | a0000c0003t0003g0261a0000c0003t0003g0262a0000c0003t0003g0263others(21): Show | 25 | 388 | 0.0644 | -20 | c.158 others(37): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 14/23 | chr1 | TogoVar | ||||||
| NBPF11_chr1_148097151_148157281 | 148132723 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp1 others(75): Show |
a0000a0001a0002 | a0000c0002a0000c0008a0000c0022others(6): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0018others(11): Show | a0000c0002t0002g0001a0000c0002t0002g0007a0000c0002t0002g0009others(68): Show | 78 | 388 | 0.2010 | -20 | c.-36 others(37): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 4/23 | chr1 | TogoVar | ||||||
| NBPF12_chr1_146933324_147001198 | 146944982 | GCCTTCCT others(13): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(32): Show |
a0002a0009a0010others(9): Show | a0002c0002a0002c0006a0002c0034others(12): Show | a0002c0002t0003a0002c0002t0013a0002c0002t0024others(15): Show | a0002c0002t0003g0003a0002c0002t0003g0010a0002c0002t0003g0011others(32): Show | 35 | 122 | 0.2869 | -20 | c.-47 others(39): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF14_chr1_148526385_148601011 | 148538229 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02572.hp2 HG03098.hp2 others(2): Show |
a0015a0077a0109 | a0015c0012a0077c0069a0109c0050 | a0015c0012t0001a0077c0069t0001a0109c0050t0001 | a0015c0012t0001g0073a0015c0012t0001g0078a0015c0012t0001g0079others(2): Show | 5 | 222 | 0.0225 | -20 | c.793 others(37): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 64/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148538231 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01175.hp1 others(29): Show |
a0002a0005a0023others(21): Show | a0002c0103a0002c0104a0005c0148others(23): Show | a0002c0103t0001a0002c0104t0001a0005c0148t0001others(23): Show | a0002c0103t0001g0202a0002c0104t0001g0023a0005c0148t0001g0085others(29): Show | 32 | 222 | 0.1441 | -20 | c.793 others(37): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 64/70 | chr1 | TogoVar | ||||||
| NBPF14_chr1_148526385_148601011 | 148561818 | CAGAGAGA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG03654.hp1 others(2): Show |
a0013a0021a0041 | a0013c0011a0021c0031a0041c0147 | a0013c0011t0001a0021c0031t0001a0041c0147t0012 | a0013c0011t0001g0138a0013c0011t0001g0139a0021c0031t0001g0154others(2): Show | 5 | 222 | 0.0225 | -20 | c.427 others(37): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 34/70 | chr1 | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149487775 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | NA18977.hp1 NA18985.hp1 NA19079.hp2 |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0056a0005c0004t0001g0131a0005c0004t0001g0132 | 3 | 276 | 0.0109 | -20 | c.104 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 9/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149514687 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0074 | a0074c0112 | a0074c0112t0001 | a0074c0112t0001g0104 | 1 | 276 | 0.0036 | -20 | c.515 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 43/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149524196 | CTCTCTGT others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00733.hp1 others(31): Show |
a0003a0027a0036others(25): Show | a0003c0003a0003c0136a0027c0029others(26): Show | a0003c0003t0001a0003c0136t0001a0027c0029t0001others(26): Show | a0003c0003t0001g0115a0003c0003t0001g0116a0003c0003t0001g0117others(31): Show | 34 | 276 | 0.1232 | -20 | c.661 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 55/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149533674 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG02129.hp2 NA18983.hp1 |
a0204a0207 | a0204c0067a0207c0046 | a0204c0067t0002a0207c0046t0002 | a0204c0067t0002g0248a0207c0046t0002g0241 | 2 | 276 | 0.0073 | -20 | c.807 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 67/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149533676 | CTCTCTGT others(13): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(22): Show |
a0001a0011a0041others(20): Show | a0001c0001a0011c0010a0041c0217others(20): Show | a0001c0001t0001a0011c0010t0001a0041c0217t0003others(20): Show | a0001c0001t0001g0121a0011c0010t0001g0010a0011c0010t0001g0011others(22): Show | 25 | 276 | 0.0906 | -20 | c.807 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 67/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF19_chr1_149470045_149561361 | 149533678 | CTCTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0119 | a0119c0153 | a0119c0153t0001 | a0119c0153t0001g0097 | 1 | 276 | 0.0036 | -20 | c.807 others(37): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 67/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF3_chr1_21435137_21489900 | 21446446 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01515.hp2 HG01517.hp1 others(7): Show |
a0009a0011a0020 | a0009c0008a0011c0013a0011c0014others(1): Show | a0009c0008t0008a0011c0013t0008a0011c0014t0024others(1): Show | a0009c0008t0008g0078a0009c0008t0008g0079a0009c0008t0008g0080others(7): Show | 10 | 394 | 0.0254 | -20 | c.133 others(37): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF4_chr1_108217464_108249076 | 108244901 | GATATATA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0019 | 1 | 134 | 0.0075 | -20 | c.-10 others(31): Show |
NBPF4 | ENSG00000196427.14 | transcript | ENST00000415641.8 | protein_coding | 826 | chr1 | TogoVar | ||||||
| NBPF4_chr1_108217464_108249076 | 108244933 | TATATATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG02040.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0003a0003c0002t0003 | a0001c0001t0001g0003a0001c0001t0003g0011a0001c0001t0003g0028others(2): Show | 5 | 134 | 0.0373 | -20 | c.-10 others(31): Show |
NBPF4 | ENSG00000196427.14 | transcript | ENST00000415641.8 | protein_coding | 858 | chr1 | TogoVar | ||||||
| NBPF4_chr1_108217464_108249076 | 108244943 | TATATACA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0047 | 1 | 134 | 0.0075 | -20 | c.-11 others(31): Show |
NBPF4 | ENSG00000196427.14 | transcript | ENST00000415641.8 | protein_coding | 868 | chr1 | TogoVar | ||||||
| NBPF6_chr1_108445343_108476920 | 108449416 | CTATATAT others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0025 | 1 | 68 | 0.0147 | -20 | c.-10 others(31): Show |
NBPF6 | ENSG00000186086.19 | transcript | ENST00000495380.7 | protein_coding | 926 | chr1 | TogoVar | ||||||
| NCAM1_chr11_112956420_113283436 | 113011964 | TTTCCTTC others(13): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0110a0001c0001t0006g0057 | 2 | 242 | 0.0083 | -20 | c.52+ others(37): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113025777 | CCGAGAGA others(13): Show |
C | intron_variant | MODIFIER | NA18971.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0053 | a0001c0001t0002g0037a0001c0001t0053g0038 | 2 | 242 | 0.0083 | -20 | c.52+ others(37): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| NCAM1_chr11_112956420_113283436 | 113025778 | CGAGAGAG others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0030a0001c0001t0001g0062a0001c0001t0001g0210others(74): Show | 78 | 242 | 0.3223 | -20 | c.52+ others(37): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM1_chr11_112956420_113283436 | 113132604 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0004a0001c0001t0006a0001c0001t0027others(2): Show | a0001c0001t0004g0069a0001c0001t0006g0070a0001c0001t0027g0063others(2): Show | 5 | 242 | 0.0207 | -20 | c.53- others(37): Show |
NCAM1 | ENSG00000149294.18 | transcript | ENST00000316851.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| NCAM2_chr21_20993409_21548329 | 21210967 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG03486.hp1 |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0002a0003c0006t0005a0003c0006t0018 | a0001c0004t0002g0058a0003c0006t0005g0065a0003c0006t0018g0016 | 3 | 132 | 0.0227 | -20 | c.56- others(37): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NCAM2_chr21_20993409_21548329 | 21387176 | GCACACAC others(13): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(19): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(11): Show | a0001c0001t0001g0037a0002c0002t0001g0018a0002c0002t0001g0019others(19): Show | 22 | 132 | 0.1667 | -20 | c.119 others(41): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NCAM2_chr21_20993409_21548329 | 21433742 | CAATAAAA others(13): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0008 | 1 | 132 | 0.0076 | -20 | c.165 others(39): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NCAM2_chr21_20993409_21548329 | 21530243 | ATTAATTA others(13): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG03831.hp1 HG04228.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0022a0001c0004t0001a0002c0002t0001 | a0001c0001t0022g0102a0001c0004t0001g0082a0002c0002t0001g0086 | 3 | 132 | 0.0227 | -20 | c.228 others(39): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| NCAPG2_chr7_158626169_158709804 | 158648547 | GCAAATGG others(13): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343a0001c0001t0001g0345 | 2 | 378 | 0.0053 | -20 | c.307 others(39): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158648617 | GACAACCA others(13): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01099.hp1 others(14): Show |
a0001a0006a0011 | a0001c0001a0006c0008a0011c0016 | a0001c0001t0001a0006c0008t0001a0011c0016t0001 | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0185others(14): Show | 17 | 378 | 0.0450 | -20 | c.307 others(39): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158648817 | CACAACCA others(13): Show |
C | intron_variant | MODIFIER | NA18964.hp2 NA19091.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0005g0214 | 3 | 378 | 0.0079 | -20 | c.307 others(39): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158648887 | GCAAATGG others(13): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 378 | 0.0027 | -20 | c.307 others(39): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 24/27 | chr7 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158672280 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG02165.hp1 HG03579.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0005a0001c0001t0001g0234a0001c0001t0001g0293others(6): Show | 9 | 378 | 0.0238 | -20 | c.132 others(37): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 12/27 | chr7 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158672284 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 378 | 0.0027 | -20 | c.132 others(37): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 12/27 | chr7 | TogoVar |